Peripheral neuropathy, and Abnormality of the ribs

Diseases related with Peripheral neuropathy and Abnormality of the ribs

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Abnormality of the ribs that can help you solving undiagnosed cases.


Top matches:

Low match FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME


Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME Is also known as myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome type 5|lccs5

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Peripheral neuropathy
  • Respiratory insufficiency
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME

Low match AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY


Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Low match CAFFEY DISEASE


Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.

CAFFEY DISEASE Is also known as infantile cortical hyperostosis

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Fever
  • Abnormality of the skeletal system


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAFFEY DISEASE

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Other less relevant matches:

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Low match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Low match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Low match MYOTONIC DYSTROPHY 1; DM1


Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Low match MUCOLIPIDOSIS TYPE III ALPHA/BETA


Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

MUCOLIPIDOSIS TYPE III ALPHA/BETA Is also known as ml iii|mucolipidosis type 3 alpha/beta|pseudo-hurler polydystrophy|mucolipidosis iiia|ml iii alpha/beta|ml iiia|ml 3 alpha/beta|mucolipidosis iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III ALPHA/BETA

Low match CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Low match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Abnormality of the ribs

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Abnormality of the ribs. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hernia Intellectual disability Severe short stature Polyhydramnios Joint stiffness Hearing impairment Dysostosis multiplex Disproportionate short-limb short stature Hydrops fetalis Osteoarthritis Edema Limb undergrowth Brachydactyly Kyphosis Seizures Generalized hypotonia Decreased fetal movement Global developmental delay Centrally nucleated skeletal muscle fibers Thin ribs Respiratory insufficiency Myopathy

Rare Symptoms - Less than 30% cases


Flared femoral metaphysis Coarse facial features Dementia Enlarged joints Carpal bone hypoplasia Constrictive median neuropathy Cervical instability Motor delay Short long bone Aortic regurgitation Hypoplasia of the odontoid process Short palm Facial asymmetry Feeding difficulties in infancy Kyphoscoliosis Platyspondyly Irregular carpal bones Ptosis Abnormal joint morphology Short foot Skeletal dysplasia Micromelia Respiratory failure Prominent forehead Genu valgum Growth delay Hydrocephalus Cataract Retinal degeneration Areflexia Abnormality of the metaphysis Talipes Short ribs Epiphyseal dysplasia Recurrent upper respiratory tract infections Cardiomegaly Sensory neuropathy Behavioral abnormality Hirsutism Bowing of the legs Skeletal muscle hypertrophy Spontaneous abortion Progressive muscle weakness Arthritis Cryptorchidism Arthralgia Osteopenia Peripheral axonal neuropathy Inguinal hernia Umbilical hernia Intellectual disability, mild Myalgia Dysphagia Muscle weakness Skeletal muscle atrophy First degree atrioventricular block Increased serum iduronate sulfatase activity Frontal balding Subperiosteal bone resorption Testicular atrophy Excessive daytime sleepiness Atrial flutter Nonimmune hydrops fetalis Narcolepsy Increased serum beta-hexosaminidase Cardiac arrest Deficiency of N-acetylglucosamine-1-phosphotransferase Facial diplegia Obsessive-compulsive trait Heart block Abnormal EKG Neurofibrillary tangles Alzheimer disease Myotonia Cholelithiasis Atrioventricular block Ventricular tachycardia Intellectual disability, progressive Talipes equinovarus Soft tissue swelling of interphalangeal joints Osteoporosis Premature birth Visual field defect Nevus Hip dysplasia Wide nose Specific learning disability Split hand Astigmatism Corneal opacity Retinopathy Thickened skin Bone pain Opacification of the corneal stroma Craniosynostosis Respiratory tract infection Rheumatoid arthritis Scleroderma Percussion myotonia Broad ribs Abnormality of the optic nerve Juvenile rheumatoid arthritis Atrial fibrillation Mitral valve prolapse Mucopolysacchariduria Shallow acetabular fossae Retinal vascular tortuosity Mandibular prognathia J-shaped sella turcica Vascular tortuosity Insulin resistance Hyperopic astigmatism Ring fibers Polydactyly Short humerus Jaundice Metaphyseal dysplasia Multiple epiphyseal dysplasia Beaking of vertebral bodies Delayed epiphyseal ossification Genu recurvatum Upper limb undergrowth Insulin-resistant diabetes mellitus Spinal canal stenosis Disproportionate short stature Decreased serum testosterone level Abnormality of the hip bone Limited elbow extension Flared metaphysis Spondyloepiphyseal dysplasia Metaphyseal irregularity Rickets Scaling skin Metaphyseal widening Intestinal polyposis Irregular epiphyses Genu varum Cervical cord compression Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Childhood onset short-limb short stature Limited hip extension Premature osteoarthritis Small epiphyses Cervical myelopathy Ulnar deviation of the wrist Atlantoaxial dislocation Decreased testosterone in males Hamartomatous polyposis Myelopathy Ulnar deviation of the hand Decreased serum estradiol Hyperinsulinemia Hypogonadotrophic hypogonadism Hepatosplenomegaly Hypoplasia of the ulna Aplasia/Hypoplasia of the patella Short 1st metacarpal Short femur Short tibia Fibular hypoplasia Prolonged neonatal jaundice Hallux valgus Metatarsus adductus Short middle phalanx of finger Aplasia/Hypoplasia involving the metacarpal bones Heart murmur Hypoplasia of the radius Short phalanx of finger Postaxial hand polydactyly Macroglossia Postaxial polydactyly Paresthesia Pectus carinatum Pes valgus Short digit Abnormal vertebral morphology Short distal phalanx of finger Rhizomelia Abnormality of epiphysis morphology Type II diabetes mellitus Lumbar hyperlordosis Bilateral sensorineural hearing impairment Waddling gait Growth hormone deficiency Short metacarpal Joint hyperflexibility Acromesomelia Delayed puberty Hyperlordosis Joint laxity Alopecia Delayed skeletal maturation Gait disturbance Valgus hand deformity Aplasia/Hypoplasia of metatarsal bones Brain atrophy Bicuspid aortic valve Tachycardia Cellulitis Hyperesthesia Cortical thickening of long bone diaphyses Anasarca Calvarial hyperostosis Thoracic dysplasia Thrombocytosis Restlessness Tibial bowing Cortical irregularity Increased antibody level in blood Leukocytosis Hyperostosis Carious teeth Irritability Proptosis Fever Periosteal thickening of long tubular bones Ataxia Abnormality of the foot musculature Dysmetria Asymmetric septal hypertrophy Protuberant abdomen Coarse hair Limb ataxia Progressive neurologic deterioration Sleep disturbance Neurodegeneration Synophrys Failure to thrive Aggressive behavior Hyperactivity Splenomegaly Diarrhea Cerebellar atrophy Tremor Hepatomegaly Sleepy facial expression Macrocephaly at birth Thickened ribs Proximal muscle weakness Frequent falls Open mouth Urinary incontinence Generalized muscle weakness Falls Ophthalmoplegia Facial palsy Difficulty walking Respiratory insufficiency due to muscle weakness Pes cavus Retinal hemorrhage Abnormal lower motor neuron morphology Congenital contracture Decreased nerve conduction velocity Small for gestational age Elevated serum creatine phosphokinase External ophthalmoplegia Delayed gross motor development Neonatal asphyxia Malignant hyperthermia Proximal muscle weakness in upper limbs Cavernous hemangioma Proximal muscle weakness in lower limbs Restrictive deficit on pulmonary function testing Exercise-induced myalgia Areflexia of lower limbs Type 1 muscle fiber predominance Drowsiness EMG: myopathic abnormalities Muscle fibrillation Generalized amyotrophy Mildly elevated creatine phosphokinase Large for gestational age Calf muscle hypertrophy Ophthalmoparesis Pyloric stenosis Easy fatigability Heparan sulfate excretion in urine Ovoid thoracolumbar vertebrae Unsteady gait Increased circulating cortisol level Asymmetry of the thorax Asymmetric growth Adrenocortical adenoma Pheochromocytoma Hemihypertrophy Communicating hydrocephalus Myelomeningocele Impaired pain sensation Embryonal neoplasm Multiple lipomas Neurofibromas Nephroblastoma Overgrowth Carcinoma Abnormality of cardiovascular system morphology Abnormality of the dentition Hepatoblastoma Leiomyosarcoma Absent primary metaphyseal spongiosa Arrhythmia Lower limb muscle weakness Muscular dystrophy Stroke Mental deterioration Neonatal hypotonia Cerebral cortical atrophy Hypogonadism Dilatation Hemifacial hypertrophy Cerebral atrophy Intellectual disability, severe Respiratory distress Delayed speech and language development Cognitive impairment Muscular hypotonia Hemiareflexia Neoplasm Hyperplasia of the femoral trochanters Dense calvaria Narrow chest Aplasia/Hypoplasia of the lungs Short finger Multiple joint contractures Akinesia Abnormal form of the vertebral bodies Interphalangeal joint contracture of finger Confusion Arthrogryposis multiplex congenita Abnormal cortical bone morphology Camptodactyly of finger Low-set, posteriorly rotated ears High forehead Clinodactyly of the 5th finger Midface retrusion Depressed nasal bridge Cleft palate Fetal akinesia sequence Flared iliac wings Halberd-shaped pelvis Hypoplastic cervical vertebrae Dumbbell-shaped metaphyses Long coccyx Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Flared humeral metaphysis Short diaphyses Anisospondyly Spondylometaphyseal dysplasia Abnormal enchondral ossification Severe platyspondyly Pseudoarthrosis Caudal appendage Abnormality of the intervertebral disk Long thorax Thoracic kyphoscoliosis Rough bone trabeculation Small epiphyses of the phalanges of the hand



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